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In this paper, for a wide class of nonparametric regression models, new local linear kernel estimators are proposed that are uniformly consistent under close-to-minimal and visual conditions on design points. These estimators are universal in the sense that their designs can be either fixed and not necessarily satisfying the traditional regularity conditions, or random, while not necessarily consisting of independent or weakly dependent random variables. With regard to the design elements, only dense filling of the regression function domain with the design points without any specification of their correlation is assumed. This study extends the dense data methodology and main results of the authors' previous work for the case of regression functions of several variables. [ABSTRACT FROM AUTHOR]

Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of FD diagnostic criteria and the prevalence of FD in Russia have not been previously assessed. We demonstrated that the diagnostic algorithms of FD, including the diagnostic apoB levels, require correction, taking into account the distribution of apoB levels in the population. At the same time, a triglycerides cutoff ≥ 1.5 mmol/L may be a useful tool in identifying subjects with FD. In this study, a high prevalence of FD was detected: 0.67% (one in 150) based on the ε2ε2 haplotype and triglycerides levels ≥ 1.5 mmol/L. We also analyzed the presence and pathogenicity of APOE variants associated with autosomal dominant FD in a large research sample. [ABSTRACT FROM AUTHOR]

An important direction in the development of additive technologies is associated with the addition of ceramic particles (oxide, carbide, boride, and nitride ceramics) to metal powders. The prediction of the physical and mechanical characteristics of SiC-particle-reinforced composite materials (PRCMs) in comparison with experimental results was studied. A near-α Ti-4.25Al-2V titanium-alloy-based composite reinforced by 1 vol.% of SiC ceramic particles was produced using laser direct energy deposition. A multiscale modeling approach at the micro and macro levels was applied. At the micro level, the toughness and strength characteristics for a temperature interval of T = 20–450 °C were predicted using a representative volume element of PRCM with the nearly real shape of SiC particles. At the macro level, the features of plastic deformation and fracture of the PRCM were predicted by numerical modeling using the commercial software Digimat Student Edition ver. 2022.4 and Ansys Student 2023 R2. The addition of SiC particles was found to improve the physical and mechanical properties in the whole temperature range. The results of the numerical modeling were consistent with the experimental data (the deviation did not exceed 10%). The proposed approach for predicting the physical and mechanical properties of Ti-4.25Al-2V/SiC can also be used for other PRCMs obtained by laser direct energy deposition. [ABSTRACT FROM AUTHOR]

The goal of our study was to examine the effects of the regional characteristics of the living environment on individual a priori and a posteriori dietary patterns of the Russian population. For the analysis, we used cross-sectional data from the Epidemiology of Cardiovascular Diseases in the Regions of the Russian Federation study from 2013–2014. The sample included 18,054 men and women 25–64 years of age from 12 regions. Based on the frequency of consumption of basic foods, four a posteriori empirical dietary patterns (EDPs), along with an a priori cardioprotective dietary pattern (CPDP), were identified. To describe the regional living environment, five regional indices were used. Adherence to the meat-based EDP was directly associated with deterioration of social living conditions and a more northerly location for the region of residence. The probability of a CPDP increased with greater deterioration of social living conditions, aggravation of demographic crises, and higher industrial development in the region, as well as with declines in the economic development of the region, income, and economic inequality among the population. We detected several gender-dependent differences in the associations established. The patterns revealed reflect the national dietary preferences of Russians, and the regional indices characterize the effect of the living environment. [ABSTRACT FROM AUTHOR]

New local linear estimators are proposed for a wide class of nonparametric regression models. The estimators are uniformly consistent regardless of satisfying traditional conditions of dependence of design elements. The estimators are the solutions of a specially weighted least-squares method. The design can be fixed or random and does not need to meet classical regularity or independence conditions. As an application, several estimators are constructed for the mean of dense functional data. The theoretical results of the study are illustrated by simulations. An example of processing real medical data from the epidemiological cross-sectional study ESSE-RF is included. We compare the new estimators with the estimators best known for such studies. [ABSTRACT FROM AUTHOR]

Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss are among the most common autosomal recessive diseases, which require carrier screening. The evaluation of population allele frequencies (AF) of pathogenic variants in genes associated with these conditions and the choice of the best genotyping method are the necessary steps toward development and practical implementation of carrier-screening programs. We performed custom panel genotyping of 3821 unrelated participants from two Russian population representative samples and three patient groups using real-time polymerase chain reaction (PCR) and next generation sequencing (NGS). The custom panel included 115 known pathogenic variants in the CFTR, PAH, SERPINA1, and GJB2 genes. Overall, 38 variants were detected. The comparison of genotyping platforms revealed the following advantages of real-time PCR: relatively low cost, simple genotyping data analysis, and easier detection of large indels, while NGS showed better accuracy of variants identification and capability for detection of additional pathogenic variants in adjacent regions. A total of 23 variants had significant differences in estimated AF comparing with non-Finnish Europeans from gnomAD. This study provides new AF data for variants associated with the studied disorders and the comparison of genotyping methods for carrier screening. [ABSTRACT FROM AUTHOR]

In the present study, powder of FeCoCrNiMo0.5Al1.3 HEA was manufactured by gas atomization process, and then used for laser powder bed fusion (L-PBF) and microplasma spraying (MPS) technologies. The processes of phase composition and microstructure transformation during above mentioned processes and subsequent heat treatment were analyzed by X-ray diffraction (XRD), scanning electron microscopy (SEM), energy dispersive X-ray spectroscopy (EDS), and differential thermal analysis (DTA) methods. It was found that gas atomization leads to a formation of dendrites of body centered cubic (BCC) supersaturated solid solution with insignificant Mo-rich segregations on the peripheries of the dendrites. Annealing leads to an increase of element segregations till to decomposition of the BCC solid solution and formation of σ-phase and B2 phase. Microstructure and phase composition of L-PBF sample are very similar to those of the powder. The MPS coating has a little fraction of face centered cubic (FCC) phase because of Al oxidation during spraying and formation of regions depleted in Al, in which FCC structure becomes more stable. Maximum hardness (950 HV) is achieved in the powder and L-PBF samples after annealing at 600 °C. Elastic modulus of the L-PBF sample, determined by nanoindentation, is 165 GPa, that is 12% lower than that of the cast alloy (186 GPa). [ABSTRACT FROM AUTHOR]

The paper studies laser welding of thin-thickness Ti-6Al-4V parts, manufactured by selective laser melting (SLM). A full factorial experiment was carried out in order to construct a regression model of the technological parameters (laser power, welding speed, and defocusing amount) which influence the weld shape. Metallographic analysis was carried out and it was found that thermal cycles of product printing and laser welding are equivalent. The microhardness analysis also showed no differences between the weld metal and the base metal. The contour plots of the parameters influence on the response function was constructed, and the area of welding modes was determined. [ABSTRACT FROM AUTHOR]

The FeCoNiCrMo0.5Alx system with x up to 2.13 was analyzed from the point of view of evolution of the phase composition and microstructure. Cast samples were synthesized by induction melting and analyzed by X-ray diffraction, energy dispersive spectroscopy, scanning electron microscopy, and Vickers microhardness test methods. Phase compositions of these alloys in dependance on Al concentration consist of FCC solid solution, σ-phase, NiAl-based B2 phase, and BCC solid solution enriched with Mo and Cr. Phase formation principles were studied. Al dissolves in a FeCoNiCrMo0.5 FCC solid solution up to 8 at.%.; at higher concentrations, Al attracts Ni, removing it from FCC solid solution and forming the B2 phase. Despite Al not participating in σ-phase formation, an increase in Al concentration to about 20 at.% leads to a growth in the σ-phase fraction. The increase in the σ-phase was caused by an increase in the amount of B2 because the solubility of σ-forming Mo and Cr in B2 was less than that in the FCC solution. A further increase in Al concentration led to an excess of Mo and Cr in the solution, which formed a disordered BCC solid solution. The hardness of the alloys attained the maximum of 630 HV at 22 and 32 at.% Al. [ABSTRACT FROM AUTHOR]

Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic conditions but remains substantially underdiagnosed. The aim of our study was to investigate the prevalence of HeFH in the population of 11 different regions of Russia. Individuals were selected from the Epidemiology of Cardiovascular Risk Factors and Diseases in Regions of the Russian Federation Study. All participants who had low-density lipoprotein cholesterol (LDL-C) higher than 4.9 mmol/L, or LDL-C lower than 4.9 mmol/L, but had statin therapy, were additionally examined by FH experts. FH was diagnosed using the Dutch Lipid Clinic Network criteria, incorporating genetic testing. HeFH prevalence was assessed for 18,142 participants. The prevalence of patients with definite or probable HeFH combined was 0.58% (1 in 173). A total of 16.1% of patients with definite or probable HeFH had tendon xanthomas; 36.2% had mutations in one of the three genes; 45.6% of FH patients had coronary artery disease; 63% of HeFH patients received statins; one patient received an additional PCSK9 inhibitor; no patients received ezetimibe. Only 3% of patients reached the LDL-C goal based on 2019 ESC/EAS guidelines. Underdiagnosis and undertreatment of FH in Russia underline the need for the intensification of FH detection with early and aggressive cholesterol-lowering treatment. [ABSTRACT FROM AUTHOR]

Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the CFTR, PAH, SERPINA1, and GJB2 genes. The approach is based on the cheapest and fastest method, on using a small number of genes, and on the estimation of the effectiveness of carriers' detection. The custom panel was tested on a population-based cohort that included 1244 participants. Genotypes were determined by the TaqMan OpenArray Genotyping platform on the QuantStudio 12K Flex Real-Time PCR System. The frequency of heterozygotes in the Russian population was 16.87% or 1:6 (CI95%: 14.76–19.00% by Clopper-Pearson exact method): in CFTR—2.81% (1:36), PAH—2.33% (1:43), SERPINA1—4.90% (1:20), and GJB2—6.83% (1:15). The data on allele frequencies were obtained for the first time on a Russian population. The panel allows us to identify the vast majority of carriers of recessive diseases in the population. It is an effective approach to carrier screening for common recessive diseases. [ABSTRACT FROM AUTHOR]